Bilguvar K - Search Results

1

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL; EuroEpinomics-RES consortium AR working group; Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H. Chatron N, et al. Among authors: bilguvar k. Brain. 2020 May 1;143(5):1447-1461. doi: 10.1093/brain/awaa085. Brain. 2020. PMID: 32282878 Free PMC article.

2

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M. Tüysüz B, et al. Among authors: bilguvar k. Neurogenetics. 2008 May;9(2):119-25. doi: 10.1007/s10048-008-0121-9. Epub 2008 Mar 6. Neurogenetics. 2008. PMID: 18322713

3

Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).

Arlier Z, Bayri Y, Kolb LE, Erturk O, Ozturk AK, Bayrakli F, Bilguvar K, Moliterno JA, Dervent A, Demirbilek V, Yalcinkaya C, Korkmaz B, Tuysuz B, Gunel M. Arlier Z, et al. Among authors: bilguvar k. J Child Neurol. 2010 Oct;25(10):1265-8. doi: 10.1177/0883073809357241. Epub 2010 Jan 28. J Child Neurol. 2010. PMID: 20110217

4

Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.

Tüysüz B, Yılmaz S, Gül E, Kolb L, Bilguvar K, Evliyaoğlu O, Günel M. Tüysüz B, et al. Among authors: bilguvar k. Am J Med Genet A. 2013 Jun;161A(6):1300-8. doi: 10.1002/ajmg.a.35906. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633440

5

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

Tüysüz B, Bilguvar K, Koçer N, Yalçınkaya C, Çağlayan O, Gül E, Sahin S, Çomu S, Günel M. Tüysüz B, et al. Among authors: bilguvar k. Am J Med Genet A. 2014 Jul;164A(7):1677-85. doi: 10.1002/ajmg.a.36514. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700674

6

Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up.

Tüysüz B, Yılmaz S, Kasapçopur Ö, Erener-Ercan T, Ceyhun E, Bilguvar K, Günel M. Tüysüz B, et al. Among authors: bilguvar k. Rheumatol Int. 2014 Nov;34(11):1539-44. doi: 10.1007/s00296-014-3037-8. Epub 2014 May 12. Rheumatol Int. 2014. PMID: 24816859

7

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.

Tüysüz B, Yılmaz S, Erener-Ercan T, Bilguvar K, Günel M. Tüysüz B, et al. Among authors: bilguvar k. Pediatr Radiol. 2015 Apr;45(5):771-6. doi: 10.1007/s00247-014-3159-x. Epub 2014 Sep 26. Pediatr Radiol. 2015. PMID: 25256152

8

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.

Çağlayan AO, Tüysüz B, Coşkun S, Quon J, Harmancı AS, Baranoski JF, Baran B, Erson-Omay EZ, Henegariu O, Mane SM, Bilgüvar K, Yasuno K, Günel M. Çağlayan AO, et al. Among authors: bilguvar k. J Hum Genet. 2016 May;61(5):395-403. doi: 10.1038/jhg.2015.160. Epub 2016 Jan 7. J Hum Genet. 2016. PMID: 26740239 Free PMC article.

9

Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

Tüysüz B, Ercan-Sencicek AG, Canpolat N, Koparır A, Yılmaz S, Kılıçaslan I, Gülez B, Bilguvar K, Günel M. Tüysüz B, et al. Among authors: bilguvar k. Am J Med Genet A. 2016 May;170A(5):1187-95. doi: 10.1002/ajmg.a.37543. Epub 2016 Jan 8. Am J Med Genet A. 2016. PMID: 26749367

10

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Yilmaz S, Uludağ Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B. Yilmaz S, et al. Among authors: bilguvar k. Mol Genet Genomic Med. 2018 Mar;6(2):230-248. doi: 10.1002/mgg3.364. Epub 2018 Feb 4. Mol Genet Genomic Med. 2018. PMID: 29397575 Free PMC article.

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